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Intellectual disability-epilepsy-extrapyramidal syndrome

ORPHA:468620 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(6)

  • Brain imaging abnormalityHP:0410263
  • ConstipationHP:0002019
  • Intellectual disabilityHP:0001249
  • Reduced eye contactHP:0000817
  • Severe global developmental delayHP:0011344
  • Sleep disturbanceHP:0002360

Frequent (79-30%)(12)

  • Abnormality of pain sensationHP:0010832
  • Aggressive behaviorHP:0000718
  • AutismHP:0000717
  • Broad-based gaitHP:0002136
  • Developmental regressionHP:0002376
  • Emotional labilityHP:0000712
  • Feeding difficultiesHP:0011968
  • Floppy infantHP:0008947
  • Gait ataxiaHP:0002066
  • MicrocephalyHP:0000252
  • Recurrent infectionsHP:0002719
  • Tip-toe gaitHP:0030051

Occasional (29-5%)(12)

  • Absent speechHP:0001344
  • AgitationHP:0000713
  • Autistic behaviorHP:0000729
  • ClumsinessHP:0002312
  • DroolingHP:0002307
  • Gait imbalanceHP:0002141
  • Involuntary movementsHP:0004305
  • MacrocephalyHP:0000256
  • SeizureHP:0001250
  • Status epilepticusHP:0002133
  • Unsteady gaitHP:0002317
  • Waddling gaitHP:0002515